ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.2469A>G (p.Ser823=)

gnomAD frequency: 0.00043  dbSNP: rs201780221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721464 SCV000535269 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001721464 SCV002491901 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319496 SCV002608677 likely benign Cardiovascular phenotype 2020-11-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004539909 SCV004763235 likely benign ALPK3-related disorder 2020-09-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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